Welcome to Scribd, the world's digital library. Read, publish, and share books and documents. See more
Standard view
Full view
of .
Save to My Library
Look up keyword
Like this
1Activity
0 of .
Results for:
No results containing your search query
P. 1
Discuss the use of the three DSM IV diagnostic categories for autism as potential endophenotypes for understanding the underlying genetics of autism.

Discuss the use of the three DSM IV diagnostic categories for autism as potential endophenotypes for understanding the underlying genetics of autism.

Ratings: (0)|Views: 7 |Likes:
Autism has been identified as a heterogenous disorder, and as a result the study of its genetic etiology is necessarily a complicated one. This essay bases its investigation upon the three diagnostic categories stipulated by DSM IV; (impairments in language, social interaction and manifestation of repetitive and stereotypical behavior) to produce three endophentypes that are separately studied.
Autism has been identified as a heterogenous disorder, and as a result the study of its genetic etiology is necessarily a complicated one. This essay bases its investigation upon the three diagnostic categories stipulated by DSM IV; (impairments in language, social interaction and manifestation of repetitive and stereotypical behavior) to produce three endophentypes that are separately studied.

More info:

Published by: Undergraduate Awards on Sep 01, 2012
Copyright:Attribution Non-commercial

Availability:

Read on Scribd mobile: iPhone, iPad and Android.
See more
See less

01/03/2014

 
Discuss the use of the three DSM IV diagnostic categories for autism as potentialendophenotypes for understanding the underlying genetics of autism.Introduction
Autism was not identified as a psychiatric disorder until 1946 (Kanner, 1946). Beforethen, autistic individuals were characterized either as mentally retarded or, if displaying amilder form of the disorder, quirky and anti-social. Researchers are now in agreementthat autism exists on a spectrum (Spiker, 2001). Baron-Cohen (1998) has gone so far asto describe it as the “extreme male brain”. The prevalence of autistic traits in the highlygifted have been retrospectively assigned to (among others) Yeats, Joyce and Einstein(Walker, 2006).Diagnosing autism presents various difficulties. The umbrella term of PervasiveDevelopmental Disorder (PDD) covers classic autism, Rett Disorder, Asperger’ssyndrome, Childhood disintegrative disorder and Pervasive Developmental Disorder NotOtherwise Specified (PDDNOS) and traits of these specific diseases are often sharedacross different diagnoses. Research often uses the broad PDD phenotype as a basis for genetic investigation. The term ASD (Autism Spectrum Disorder) is usedinterchangeably with autism. Autism or ASD is a highly specific disorder. DSM IVrequires that a number of symptoms in the following three categories be displayed beforethe age of three: qualitative impairments in social interaction, qualitative impairments inlanguage and communication and restricted, repetitive and stereotyped patterns of  behavior, interests and activities. Furthermore, a diagnosis of autism requires the absenceof any other PDD.Autism is highly heritable and its prevalence in the general population is estimated at27.5/10,000 (Fombonne 2002). In recent years the focus has switched to studying thedisorder as a variable phenotype of social, communicative and behavioural difficulties(Volkmar, 2004). Under a broad autism phenotype, Bailey et al (1995) found a 92 %concordance rate in MZ twin pairs and a 10% concordance rate in DZ twins. Folstein(2001) found a slightly lower concordance rate of 70% in MZ twins and 0% in DZ twins.1
 
The absence of any concordance between DZ twin pairs may however be accounted for  by small sample size and narrow diagnostic criteria. Siblings of autistic individuals are at between 50 and 100 times more risk of developing the disorder (Bolton, 1994).A genome-wide scan of 51 multiplex families found eleven chromosomal regions linkedto autism (Philippe, 1999). It is now acknowledged that autism is an etiologicallycomplex disorder with a substantial contribution of heterogenous genetic factors(Yrigollen, 2007).Heterogeneity makes the task of localizing and identifying genes difficult (Silverman,2001). Furthermore, since autism exists on a spectrum with many people displaying“autistic traits”, the search for a single cause of the disorder is unlikely to yield adefinitive result. A more manageable approach to genetic investigation is in theextraction of the three subdomains of the autistic phenotype (as described by DSM IV).This approach entertains the possibility that these three categorical traits may follow anindependent pattern of inheritance (Silverman, 2001)This essay bases its investigation upon the DSM IV classification of autism and isolatesthe three categories of: language and communication, social interaction and repetitive andstereotyped patterns of behaviour as distinct endophentypes. The vast corpus of geneticinvestigation of autism makes the comprehensive summary of research an impossibility but efforts have been made to include the most relevant and up-to-date findings.
Language and Autism
To the lay observer, autism is primarily characterized by an impaired communication andinteraction ability. The diagnosis of autism requires that a difficulty in languagedevelopment be manifested before the age of three. Although there exists a great deal of variation in the language levels of autistic individuals (Kjelgaard, 2006) a difficulty inunderstanding and engaging in pragmatic communication is common in all cases (Tager-Flusberg, 1996, cited in Kjelgaard, 2006) and both symbolic play and joint attentioninterventions have been found to have a significant impact on autistic children’s use of expressive language (Kasari, 2008)2
 
The following problems relating to language use have been listed as defining features of autism:
Delay or lack of the development of verbal communication
Inability to react to the communication of others
Relative failure to initiate or maintain conversational interchange.
Stereotyped and repetitive use of language.
Employment of ‘you’ when ‘I’ is meant.
Idiosyncratic use of words.
Abnormalities of prosody (pitch, stress, rate, rhythm and intonation of speech). Rutter and Schopler (1987)To these, Frith (1989) added:
Semantic/conceptual difficulties.
Abnormalities of non-verbal communication.Genetic research into language impairment in autism has focused on histories of languageacquisition in the relatives of autistic probands and on elucidating whether the languagedifficulties manifested in autism are distinct from other developmental disorders such asSpecific Language Impairment.
Autism and Specific Language Impairment
While Specific Language Impairment (SLI) is defined by a difficulty in mastering thestructure of language, Autism is characterized by an impairment in its social use. Folstein(1999) points out however that there is in fact a ‘considerable overlap’ in the phenotypesof the two disorders. Many autistic children also display difficulties in the areas of vocabulary, grammar and phonology (Tager-Flusberg, 1999). Furthermore, relatives of autistic probands have significantly higher rates of histories of language delay andlanguage-based learning difficulties (Rutter, 1994).3

You're Reading a Free Preview

Download
/*********** DO NOT ALTER ANYTHING BELOW THIS LINE ! ************/ var s_code=s.t();if(s_code)document.write(s_code)//-->